Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA

Hongtai Liu,Ya Gao,Zhiyang Hu,Linhua Lin,Xuyang Yin,Jun Wang,Dayang Chen,Fang Chen,Hui Jiang,Jinghui Ren,Wei Wang

Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA

2016

Hongtai Liu
Ya Gao
Zhiyang Hu
Linhua Lin
Xuyang Yin
Jun Wang
Dayang Chen
Fang Chen
Hui Jiang
Jinghui Ren
Wei Wang

Objectives The aim of this study was to assess the performance of noninvasively prenatal testing (NIPT) for fetal copy number variants (CNVs) in clinical samples, using a whole-genome sequencing method.

Keywords:

DNA microarray
DNA sequencing
Exome sequencing
DNA
Copy-number variation
Prenatal diagnosis
Genetics
Chromosome
Biology
Whole genome sequencing
Microarray

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